NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000486934.3

Allele description [Variation Report for NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)]

NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)
HGVS:
  • NC_000002.12:g.47806281C>A
  • NG_007111.1:g.28135C>A
  • NG_008397.1:g.104395G>T
  • NM_000179.2:c.3724C>A
  • NM_000179.3:c.3724C>AMANE SELECT
  • NM_001281492.1:c.3334C>A
  • NM_001281493.1:c.2818C>A
  • NM_001281494.1:c.2818C>A
  • NP_000170.1:p.Arg1242Ser
  • NP_000170.1:p.Arg1242Ser
  • NP_001268421.1:p.Arg1112Ser
  • NP_001268422.1:p.Arg940Ser
  • NP_001268423.1:p.Arg940Ser
  • LRG_219t1:c.3724C>A
  • LRG_219:g.28135C>A
  • LRG_219p1:p.Arg1242Ser
  • NC_000002.11:g.48033420C>A
Protein change:
R1112S
Links:
dbSNP: rs587779285
NCBI 1000 Genomes Browser:
rs587779285
Molecular consequence:
  • NM_000179.2:c.3724C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000179.3:c.3724C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.1:c.3334C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.1:c.2818C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.1:c.2818C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000712855Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Feb 20, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000712855.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Arg1242Ser variant in MSH6 has been reported in one individual with colore ctal cancer who also carried a second variant of uncertain significance in MSH6 (p.Leu1201Val, O'Leary 2014) and was absent from large population studies. Compu tational prediction tools and conservation analysis suggest that the p.Arg1242Se r variant may impact the protein, though this information is not predictive enou gh to determine pathogenicity. Additionally, this variant was classified as a va riant of uncertain significance on Sept 5, 2013 by the ClinGen-approved InSiGHT expert panel (ClinVar SCV000108131.2). In summary, the clinical significance of the p.Arg1242Ser variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

Support Center